Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

We studied a 43 yr-old Spanish patient with homozygous 4.1(-) hereditary elliptocytosis. Any form of protein 4.1 was missing in the red cells. Spectrin and actin were slightly, yet significantly, diminished. Alterations appeared at the level of proteins 4.5 and 4.9. Glycophorin C was sharply reduced...

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Bibliografiske detaljer

Udgivet i:	J Clin Invest
Principais autores:	Dalla Venezia, N, Gilsanz, F, Alloisio, N, Ducluzeau, M T, Benz, E J, Delaunay, J
Format:	Artigo
Sprog:	Inglês
Udgivet:	American Society for Clinical Investigation 1992
Fag:	Research Article
Online adgang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443228/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1430200/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116044
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